Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/C|Ancestral: G|Ambiguity code: S
Location

Chromosome 12:40240594 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays